Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00577:Tmc3'

14477

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmc3

Ensembl Gene

ENSMUSG00000038540

Gene Name

transmembrane channel-like gene family 3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00577

Quality Score

Status

Chromosome

Chromosomal Location

83234135-83274822 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 83252682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 361 (E361A)

Ref Sequence

ENSEMBL: ENSMUSP00000046028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039317] [ENSMUST00000164944]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000039317
AA Change: E361A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: E361A

Domain	Start	End	E-Value	Type
transmembrane domain	143	165	N/A	INTRINSIC
transmembrane domain	195	214	N/A	INTRINSIC
transmembrane domain	227	246	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
transmembrane domain	362	381	N/A	INTRINSIC
transmembrane domain	396	415	N/A	INTRINSIC
Pfam:TMC	500	615	5e-42	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	679	701	N/A	INTRINSIC
low complexity region	1071	1089	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163297

Predicted Effect

probably null
Transcript: ENSMUST00000164944
AA Change: E361A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: E361A

Domain	Start	End	E-Value	Type
transmembrane domain	143	165	N/A	INTRINSIC
transmembrane domain	195	214	N/A	INTRINSIC
transmembrane domain	227	246	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
transmembrane domain	362	381	N/A	INTRINSIC
transmembrane domain	396	415	N/A	INTRINSIC
Pfam:TMC	500	615	1.1e-45	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	679	701	N/A	INTRINSIC
low complexity region	1042	1060	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171397

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang6	T	A	14: 44,239,458 (GRCm39)	Y90F	probably benign	Het
Arhgef6	T	A	X: 56,290,992 (GRCm39)		probably null	Het
Ccdc88a	A	G	11: 29,374,772 (GRCm39)	E115G	probably damaging	Het
Ceacam12	T	A	7: 17,801,186 (GRCm39)	V55E	probably damaging	Het
Depdc1a	A	T	3: 159,228,375 (GRCm39)	R376*	probably null	Het
Dop1a	A	T	9: 86,402,999 (GRCm39)	I1398F	probably damaging	Het
Eif2s1	T	G	12: 78,913,420 (GRCm39)	N40K	possibly damaging	Het
Epb41	T	A	4: 131,702,042 (GRCm39)	H531L	probably benign	Het
Frrs1	T	A	3: 116,696,049 (GRCm39)	W523R	probably damaging	Het
Gpatch8	T	C	11: 102,369,704 (GRCm39)	D1278G	probably damaging	Het
Mybpc1	C	T	10: 88,372,246 (GRCm39)	A795T	probably damaging	Het
Nrdc	T	C	4: 108,903,884 (GRCm39)		probably benign	Het
Os9	C	T	10: 126,933,845 (GRCm39)	R524K	probably benign	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Plekha5	T	A	6: 140,515,822 (GRCm39)		probably benign	Het
Prnp	A	G	2: 131,779,031 (GRCm39)	R228G	probably benign	Het
Prrc2c	G	A	1: 162,525,685 (GRCm39)	P307L	unknown	Het
Prss1	T	C	6: 41,439,645 (GRCm39)	V126A	possibly damaging	Het
Ptpn21	G	A	12: 98,699,860 (GRCm39)	S18F	probably damaging	Het
Setdb1	T	C	3: 95,245,888 (GRCm39)	D678G	probably damaging	Het
Sltm	G	T	9: 70,486,624 (GRCm39)	V430L	probably damaging	Het
Sphkap	A	G	1: 83,256,565 (GRCm39)	S395P	probably damaging	Het
Tas2r119	T	C	15: 32,177,599 (GRCm39)	I55T	probably damaging	Het
Uggt2	A	T	14: 119,272,312 (GRCm39)	S922T	possibly damaging	Het
Znhit1	A	T	5: 137,011,437 (GRCm39)	Y125*	probably null	Het

Other mutations in Tmc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01372:Tmc3	APN	7	83,261,746 (GRCm39)	missense	probably damaging	1.00
IGL02072:Tmc3	APN	7	83,265,148 (GRCm39)	missense	probably benign	0.00
IGL02168:Tmc3	APN	7	83,269,203 (GRCm39)	missense	possibly damaging	0.87
IGL02344:Tmc3	APN	7	83,258,302 (GRCm39)	missense	probably benign	0.00
IGL02421:Tmc3	APN	7	83,271,952 (GRCm39)	missense	probably benign
IGL02604:Tmc3	APN	7	83,271,827 (GRCm39)	missense	possibly damaging	0.85
IGL02863:Tmc3	APN	7	83,271,493 (GRCm39)	missense	possibly damaging	0.61
IGL02863:Tmc3	APN	7	83,271,494 (GRCm39)	missense	probably benign	0.04
IGL03058:Tmc3	APN	7	83,265,094 (GRCm39)	missense	possibly damaging	0.91
IGL03303:Tmc3	APN	7	83,239,933 (GRCm39)	splice site	probably benign
F5770:Tmc3	UTSW	7	83,271,713 (GRCm39)	missense	probably benign	0.01
R0133:Tmc3	UTSW	7	83,261,681 (GRCm39)	missense	probably damaging	1.00
R0147:Tmc3	UTSW	7	83,256,950 (GRCm39)	missense	probably damaging	1.00
R0304:Tmc3	UTSW	7	83,245,347 (GRCm39)	missense	probably damaging	1.00
R0320:Tmc3	UTSW	7	83,257,027 (GRCm39)	splice site	probably benign
R0478:Tmc3	UTSW	7	83,271,360 (GRCm39)	missense	possibly damaging	0.66
R0714:Tmc3	UTSW	7	83,265,969 (GRCm39)	missense	possibly damaging	0.94
R1471:Tmc3	UTSW	7	83,247,498 (GRCm39)	missense	probably damaging	1.00
R1725:Tmc3	UTSW	7	83,253,940 (GRCm39)	missense	probably damaging	1.00
R1775:Tmc3	UTSW	7	83,261,740 (GRCm39)	missense	probably benign	0.39
R2176:Tmc3	UTSW	7	83,258,516 (GRCm39)	missense	probably damaging	1.00
R4001:Tmc3	UTSW	7	83,269,271 (GRCm39)	missense	probably benign	0.01
R4229:Tmc3	UTSW	7	83,246,610 (GRCm39)	intron	probably benign
R4635:Tmc3	UTSW	7	83,234,290 (GRCm39)	unclassified	probably benign
R4715:Tmc3	UTSW	7	83,271,604 (GRCm39)	missense	probably benign	0.05
R4789:Tmc3	UTSW	7	83,271,746 (GRCm39)	missense	probably damaging	0.99
R4998:Tmc3	UTSW	7	83,271,529 (GRCm39)	missense	probably benign	0.16
R5044:Tmc3	UTSW	7	83,258,326 (GRCm39)	missense	probably benign	0.00
R5108:Tmc3	UTSW	7	83,269,156 (GRCm39)	missense	probably damaging	0.97
R5119:Tmc3	UTSW	7	83,264,218 (GRCm39)	missense	probably damaging	1.00
R5428:Tmc3	UTSW	7	83,261,755 (GRCm39)	missense	probably damaging	1.00
R5447:Tmc3	UTSW	7	83,271,569 (GRCm39)	missense	possibly damaging	0.63
R5767:Tmc3	UTSW	7	83,249,190 (GRCm39)	missense	probably benign	0.43
R5801:Tmc3	UTSW	7	83,271,686 (GRCm39)	missense	possibly damaging	0.94
R6115:Tmc3	UTSW	7	83,264,170 (GRCm39)	missense	possibly damaging	0.47
R6193:Tmc3	UTSW	7	83,252,543 (GRCm39)	missense	probably benign	0.26
R6436:Tmc3	UTSW	7	83,247,695 (GRCm39)	missense	probably damaging	1.00
R6478:Tmc3	UTSW	7	83,271,524 (GRCm39)	missense	probably benign	0.31
R6648:Tmc3	UTSW	7	83,246,751 (GRCm39)	missense	probably damaging	1.00
R6849:Tmc3	UTSW	7	83,235,565 (GRCm39)	missense	probably damaging	1.00
R7030:Tmc3	UTSW	7	83,266,025 (GRCm39)	splice site	probably null
R7085:Tmc3	UTSW	7	83,271,353 (GRCm39)	missense	possibly damaging	0.88
R7574:Tmc3	UTSW	7	83,247,481 (GRCm39)	missense	probably damaging	0.99
R7685:Tmc3	UTSW	7	83,246,666 (GRCm39)	missense	probably damaging	1.00
R7888:Tmc3	UTSW	7	83,249,217 (GRCm39)	missense	probably damaging	1.00
R8474:Tmc3	UTSW	7	83,259,122 (GRCm39)	missense	probably damaging	1.00
R8961:Tmc3	UTSW	7	83,256,970 (GRCm39)	missense	probably damaging	1.00
R9286:Tmc3	UTSW	7	83,252,643 (GRCm39)	missense	probably damaging	0.96
V7581:Tmc3	UTSW	7	83,271,713 (GRCm39)	missense	probably benign	0.01
Z1088:Tmc3	UTSW	7	83,252,676 (GRCm39)	missense	probably damaging	1.00
Z1188:Tmc3	UTSW	7	83,261,686 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06